Functional analysis of three splicing mutations identified in the PMM2 gene: Toward a new therapy for congenital disorder of glycosylation type Ia

Title
Functional analysis of three splicing mutations identified in the PMM2 gene: Toward a new therapy for congenital disorder of glycosylation type Ia
Authors
Keywords
-
Journal
HUMAN MUTATION
Volume 30, Issue 5, Pages 795-803
Publisher
Wiley
Online
2009-02-21
DOI
10.1002/humu.20960

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